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Papers Citing Disease Ontology

The Disease Ontology has been cited by more than 1,600 publications! These are listed at PubMed and Scopus (subscription required) or in our new lens.org collection. They are also visually presented by year and publication type on the statistics page.

Scopus citation overview with the yearly count of publications citing each official Disease Ontology article

This snapshot of Scopus' citation overview shows the published Human Disease Ontology articles and the number of publications they have been cited by.
Last updated: Sep 2022

DO Project Publications


To cite your use of the Disease Ontology in your work, please cite one of these publications:

  • Schriml, L. M., Munro, J. B., Schor, M., Olley, D., McCracken, C., Felix, V., Baron, J. A., Jackson, R., Bello, S. M., Bearer, C., Lichenstein, R., Bisordi, K., Dialo, N. C., Giglio, M., & Greene, C. (2022). The Human Disease Ontology 2022 update. Nucleic Acids Research, 50(D1), D1255–D1261. doi:10.1093/nar/gkab1063; PMID:34755882; PDF.
  • Schriml, L. M., Mitraka, E., Munro, J., Tauber, B., Schor, M., Nickle, L., Felix, V., Jeng, L., Bearer, C., Lichenstein, R., Bisordi, K., Campion, N., Hyman, B., Kurland, D., Oates, C. P., Kibbey, S., Sreekumar, P., Le, C., Giglio, M., & Greene, C. (2019). Human Disease Ontology 2018 update: Classification, content and workflow expansion. Nucleic Acids Research, 47(D1), D955–D962. doi:10.1093/nar/gky1032; PMID:30407550; PDF.
  • Bello, S. M., Shimoyama, M., Mitraka, E., Laulederkind, S. J. F., Smith, C. L., Eppig, J. T., & Schriml, L. M. (2018). Disease Ontology: Improving and unifying disease annotations across species. Disease Models & Mechanisms, 11(3). doi:10.1242/dmm.032839; PMID:29590633; PDF.
  • Schriml, L. M., & Mitraka, E. (2015). The Disease Ontology: Fostering interoperability between biological and clinical human disease-related data. Mammalian Genome, 26(9), 584–589. doi:10.1007/s00335-015-9576-9; PMID:26093607; PDF.
  • Wu, T. J., Schriml, L. M., Chen, Q. R., Colbert, M., Crichton, D. J., Finney, R., Hu, Y., Kibbe, W. A., Kincaid, H., Meerzaman, D., Mitraka, E., Pan, Y., Smith, K. M., Srivastava, S., Ward, S., Yan, C., & Mazumder, R. (2015). Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis. Database : the journal of biological databases and curation, 2015, bav032. doi:10.1093/database/bav032; PMID:25841438; PDF.
  • Kibbe, W. A., Arze, C., Felix, V., Mitraka, E., Bolton, E., Fu, G., Mungall, C. J., Binder, J. X., Malone, J., Vasant, D., Parkinson, H., & Schriml, L. M. (2015). Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Research, 43(D1), D1071–D1078. doi:10.1093/nar/gku1011; PMID:25348409; PDF.
  • Schriml, L. M., Arze, C., Nadendla, S., Chang, Y.-W. W., Mazaitis, M., Felix, V., Feng, G., & Kibbe, W. A. (2012). Disease Ontology: A backbone for disease semantic integration. Nucleic Acids Research, 40(D1), D940–D946. doi:10.1093/nar/gkr972; PMID:22080554; PDF.
  • Osborne, J. D., Flatow, J., Holko, M., Lin, S. M., Kibbe, W. A., Zhu, L. (Julie), Danila, M. I., Feng, G., & Chisholm, R. L. (2009). Annotating the human genome with Disease Ontology. BMC Genomics, 10(1), S6. doi:10.1186/1471-2164-10-S1-S6; PMID:19594883; PDF.
  • Du, P., Feng, G., Flatow, J., Song, J., Holko, M., Kibbe, W. A., & Lin, S. M. (2009). From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics, 25(12), i63–i68. doi:10.1093/bioinformatics/btp193; PMID:19478018; PDF.

DO Collaborative Publications

  • A community approach to the cancer-variant-interpretation bottleneck PMID:35624339
  • COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model PMID:34015823
  • Wikidata as a knowledge graph for the life sciences PMID:32180547
  • ECO, the Evidence & Conclusion Ontology: community standard for evidence information PMID:30407590
  • FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration PMID:31304272
  • Wikidata as a semantic framework for the Gene Wiki initiative PMID:26989148
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease PMID:26119816
  • Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis PMID:25841438
  • GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database PMID:19850722
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